Mutagenetix > Incidental Mutation

Incidental Mutation 'R2264:Soat1'

243966

Institutional Source

Beutler Lab

Gene Symbol

Soat1

Ensembl Gene

ENSMUSG00000026600

Gene Name

sterol O-acyltransferase 1

Synonyms

hid, ACAT-1, 8430426K15Rik, Acact

MMRRC Submission

040264-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.239) question?

Stock #

R2264 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

156255678-156301898 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 156265267 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000140721 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051396] [ENSMUST00000187507] [ENSMUST00000189661]

AlphaFold

Q61263

Predicted Effect

probably benign
Transcript: ENSMUST00000051396

SMART Domains

Protein: ENSMUSP00000058344
Gene: ENSMUSG00000026600

Domain	Start	End	E-Value	Type
low complexity region	39	52	N/A	INTRINSIC
transmembrane domain	130	152	N/A	INTRINSIC
Pfam:MBOAT	161	510	3.9e-71	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000187507

SMART Domains

Protein: ENSMUSP00000139431
Gene: ENSMUSG00000026600

Domain	Start	End	E-Value	Type
low complexity region	6	19	N/A	INTRINSIC
transmembrane domain	97	119	N/A	INTRINSIC
transmembrane domain	141	160	N/A	INTRINSIC
transmembrane domain	181	203	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000187987

Predicted Effect

probably benign
Transcript: ENSMUST00000189661

SMART Domains

Protein: ENSMUSP00000140721
Gene: ENSMUSG00000026600

Domain	Start	End	E-Value	Type
low complexity region	39	52	N/A	INTRINSIC
transmembrane domain	130	152	N/A	INTRINSIC
Pfam:MBOAT	161	510	1.2e-58	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191379

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.1%

Validation Efficiency

94% (65/69)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the acyltransferase family. It is located in the endoplasmic reticulum, and catalyzes the formation of fatty acid-cholesterol esters. This gene has been implicated in the formation of beta-amyloid and atherosclerotic plaques by controlling the equilibrium between free cholesterol and cytoplasmic cholesteryl esters. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Nov 2011]
PHENOTYPE: Mutants producing no protein or a truncated protein show depletion of cholesterol esters in adrenal cortex and peritoneal macrophages. Additionally, null mutants have reduced eye openings due to atrophy of meibomian glands or abnromal morphology and arrangement of medullary cells of all hair types. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	A	G	11: 119,901,100 (GRCm39)	S1042P	probably damaging	Het
Armc1	C	T	3: 19,189,033 (GRCm39)	V211I	probably damaging	Het
B4galnt3	T	C	6: 120,180,771 (GRCm39)	*986W	probably null	Het
BC024139	T	A	15: 76,010,117 (GRCm39)	D105V	probably damaging	Het
BC049715	C	T	6: 136,817,434 (GRCm39)	Q225*	probably null	Het
Cadps2	T	C	6: 23,323,339 (GRCm39)	H1043R	probably benign	Het
Ccdc42	T	C	11: 68,478,477 (GRCm39)	V33A	probably benign	Het
Cldn1	A	G	16: 26,177,949 (GRCm39)	Y159H	probably damaging	Het
Cog6	A	T	3: 52,900,332 (GRCm39)	C476*	probably null	Het
Col14a1	T	G	15: 55,330,086 (GRCm39)		probably null	Het
Crisp1	C	T	17: 40,623,965 (GRCm39)	M1I	probably null	Het
Dip2b	T	A	15: 100,101,097 (GRCm39)	S1297T	probably benign	Het
Dlgap4	A	G	2: 156,543,383 (GRCm39)	E262G	probably benign	Het
Dnai7	A	G	6: 145,154,155 (GRCm39)		probably benign	Het
Dpp4	A	C	2: 62,208,583 (GRCm39)	V187G	possibly damaging	Het
F5	A	G	1: 164,021,971 (GRCm39)	D1482G	probably benign	Het
Fads6	T	A	11: 115,177,061 (GRCm39)	T132S	probably damaging	Het
Fat4	A	G	3: 38,944,571 (GRCm39)	I1155V	probably benign	Het
Fermt1	C	T	2: 132,757,110 (GRCm39)		probably null	Het
Fstl1	C	T	16: 37,597,653 (GRCm39)		probably benign	Het
Get3	G	A	8: 85,751,887 (GRCm39)		probably benign	Het
Gm5089	T	C	14: 122,673,514 (GRCm39)	Y69C	unknown	Het
Gm9871	T	C	6: 101,773,201 (GRCm39)		noncoding transcript	Het
Gpr89	A	G	3: 96,779,831 (GRCm39)	S375P	probably damaging	Het
Gtf2h4	A	G	17: 35,979,556 (GRCm39)		probably benign	Het
Gtsf1	T	A	15: 103,328,391 (GRCm39)	N148I	possibly damaging	Het
Hexa	T	C	9: 59,462,660 (GRCm39)	S129P	probably damaging	Het
Iigp1	A	T	18: 60,523,738 (GRCm39)	E285D	probably benign	Het
Il23r	T	A	6: 67,403,651 (GRCm39)		probably null	Het
Iqch	T	C	9: 63,419,581 (GRCm39)	K463R	probably benign	Het
Kcnd1	A	G	X: 7,690,323 (GRCm39)		probably null	Het
Kif26b	A	T	1: 178,756,407 (GRCm39)		probably null	Het
Loxl1	A	G	9: 58,204,961 (GRCm39)	V418A	probably damaging	Het
Lrp2	T	C	2: 69,312,710 (GRCm39)	D2526G	possibly damaging	Het
Map4	G	T	9: 109,910,525 (GRCm39)	G851C	probably damaging	Het
Mtmr11	A	T	3: 96,076,413 (GRCm39)	E456V	possibly damaging	Het
Muc13	G	A	16: 33,628,409 (GRCm39)		probably null	Het
Myo18a	C	A	11: 77,710,798 (GRCm39)		probably benign	Het
Nphp4	T	A	4: 152,587,465 (GRCm39)		probably benign	Het
Nrg3	T	C	14: 38,103,659 (GRCm39)	E445G	probably damaging	Het
Ntrk1	A	G	3: 87,686,941 (GRCm39)		probably null	Het
Or8b1	G	T	9: 38,399,351 (GRCm39)	V9L	possibly damaging	Het
Parp6	T	C	9: 59,531,288 (GRCm39)	S57P	probably damaging	Het
Pcdhb12	A	G	18: 37,569,858 (GRCm39)	N335D	probably damaging	Het
Pdzph1	T	C	17: 59,195,162 (GRCm39)		probably null	Het
Pea15a	C	T	1: 172,026,704 (GRCm39)	R79H	probably benign	Het
Pik3ca	A	C	3: 32,492,076 (GRCm39)	I225L	possibly damaging	Het
Pim3	T	A	15: 88,748,793 (GRCm39)	I270N	probably damaging	Het
Pkd1l1	T	A	11: 8,829,112 (GRCm39)	R1043S	probably damaging	Het
Plekhg6	A	G	6: 125,354,431 (GRCm39)	S70P	probably benign	Het
Ptpn13	T	A	5: 103,637,527 (GRCm39)	D138E	possibly damaging	Het
Rap1gap	T	C	4: 137,455,034 (GRCm39)	L354P	probably benign	Het
Rsf1	CG	CGACGGCGGTG	7: 97,229,115 (GRCm39)		probably benign	Het
Sf3a1	T	A	11: 4,127,443 (GRCm39)	S590T	probably benign	Het
Slc14a2	T	C	18: 78,206,304 (GRCm39)		probably benign	Het
Slfn3	T	G	11: 83,103,798 (GRCm39)	I223S	probably benign	Het
Smarca1	C	T	X: 46,964,160 (GRCm39)	V331I	probably benign	Het
Tinagl1	A	G	4: 130,061,226 (GRCm39)	V308A	probably benign	Het
Tomm22	T	A	15: 79,555,488 (GRCm39)	Y78N	probably damaging	Het
Ttll1	T	C	15: 83,380,609 (GRCm39)	Y252C	probably damaging	Het
Ttn	C	T	2: 76,623,474 (GRCm39)	V15368I	probably benign	Het
Ubr4	T	C	4: 139,147,684 (GRCm39)		probably benign	Het
Wbp2	T	C	11: 115,970,424 (GRCm39)		probably null	Het
Xkr7	A	T	2: 152,896,177 (GRCm39)	I344F	probably damaging	Het
Zfp947	A	T	17: 22,364,919 (GRCm39)	C252S	probably benign	Het

Other mutations in Soat1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00537:Soat1	APN	1	156,294,300 (GRCm39)	missense	probably benign	0.37
IGL00840:Soat1	APN	1	156,261,766 (GRCm39)	missense	probably damaging	1.00
IGL00980:Soat1	APN	1	156,268,911 (GRCm39)	missense	probably benign	0.00
IGL02032:Soat1	APN	1	156,268,145 (GRCm39)	missense	probably benign	0.00
IGL02177:Soat1	APN	1	156,268,073 (GRCm39)	splice site	probably benign
IGL02718:Soat1	APN	1	156,268,999 (GRCm39)	missense	probably benign	0.02
IGL02756:Soat1	APN	1	156,274,145 (GRCm39)	missense	probably benign
IGL02884:Soat1	APN	1	156,268,926 (GRCm39)	missense	possibly damaging	0.88
R0309:Soat1	UTSW	1	156,270,023 (GRCm39)	missense	probably damaging	1.00
R0315:Soat1	UTSW	1	156,268,083 (GRCm39)	nonsense	probably null
R0492:Soat1	UTSW	1	156,268,924 (GRCm39)	missense	probably benign	0.00
R0519:Soat1	UTSW	1	156,268,816 (GRCm39)	missense	probably damaging	1.00
R1184:Soat1	UTSW	1	156,269,944 (GRCm39)	splice site	probably null
R1187:Soat1	UTSW	1	156,261,745 (GRCm39)	missense	probably damaging	1.00
R1310:Soat1	UTSW	1	156,268,902 (GRCm39)	missense	possibly damaging	0.92
R1378:Soat1	UTSW	1	156,294,352 (GRCm39)	utr 5 prime	probably benign
R1547:Soat1	UTSW	1	156,267,331 (GRCm39)	missense	probably damaging	0.98
R1690:Soat1	UTSW	1	156,272,144 (GRCm39)	missense	probably benign
R1771:Soat1	UTSW	1	156,269,991 (GRCm39)	missense	probably benign
R1776:Soat1	UTSW	1	156,269,991 (GRCm39)	missense	probably benign
R2483:Soat1	UTSW	1	156,258,669 (GRCm39)	missense	probably damaging	1.00
R4838:Soat1	UTSW	1	156,260,507 (GRCm39)	missense	probably benign	0.05
R4863:Soat1	UTSW	1	156,259,898 (GRCm39)	missense	probably damaging	0.98
R5366:Soat1	UTSW	1	156,272,181 (GRCm39)	missense	probably benign	0.00
R5828:Soat1	UTSW	1	156,265,318 (GRCm39)	missense	probably benign	0.01
R6381:Soat1	UTSW	1	156,263,373 (GRCm39)	missense	probably damaging	0.99
R6583:Soat1	UTSW	1	156,294,062 (GRCm39)	splice site	probably null
R7085:Soat1	UTSW	1	156,259,901 (GRCm39)	missense	probably damaging	0.97
R7228:Soat1	UTSW	1	156,261,808 (GRCm39)	missense	probably damaging	1.00
R7464:Soat1	UTSW	1	156,266,887 (GRCm39)	missense	probably damaging	1.00
R7593:Soat1	UTSW	1	156,268,148 (GRCm39)	nonsense	probably null
R8098:Soat1	UTSW	1	156,274,180 (GRCm39)	missense	probably damaging	1.00
R8837:Soat1	UTSW	1	156,261,772 (GRCm39)	missense	probably damaging	1.00
R9300:Soat1	UTSW	1	156,268,923 (GRCm39)	missense	probably benign	0.00
R9519:Soat1	UTSW	1	156,259,779 (GRCm39)	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- CAAGGTGACACTGAGAGGTTAC -3'
(R):5'- CCCTTTACCAAGATGCCATGG -3'

Sequencing Primer
(F):5'- ACAGACGTGAATGTGGACTTCCC -3'
(R):5'- ACCAAGATGCCATGGTTTCTTTACTG -3'

Posted On

2014-10-16